Rare Form of Epidermolysis bullosa simplex with homozygous Mutation in the EXPH5 Gene

被引:0
|
作者
Olbrich, Henning [1 ]
Fischer, Judith [2 ]
Shimanovich, Iakov [1 ]
机构
[1] Univ Lubeck, Klin Dermatol Allergol & Venerol, Lubeck, Germany
[2] Albert Ludwigs Univ Freiburg, Univ Klinikum Freiburg, Med Fak, Inst Humangenet, Freiburg, Germany
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
DK01/01
引用
收藏
页码:1 / 1
页数:1
相关论文
共 50 条
  • [1] Rare form of epidermolysis bullosa simplex with homozygous mutation in the EXPH5 gene
    Olbrich, Henning
    Fischer, Judith
    Shimanovich, Iakov
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2023, 21 : 3 - 5
  • [2] Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene
    Olbrich, Henning
    Hotz, Alrun
    Fischer, Judith
    Shimanovich, Iakov
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2023, 48 (11) : 1295 - 1297
  • [3] Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex
    Rashidghamat, E.
    Ozoemena, L.
    Liu, L.
    McGrath, J. A.
    Martinez, A. E.
    Mellerio, J. E.
    BRITISH JOURNAL OF DERMATOLOGY, 2016, 174 (02) : 452 - 453
  • [4] Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations
    Pigors, Manuela
    Schwieger-Briel, Agnes
    Leppert, Juna
    Kiritsi, Dimitra
    Kohlhase, Juergen
    Bruckner-Tuderman, Leena
    Has, Cristina
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 (03) : 842 - 845
  • [5] Guttate leukoderma as the predominant feature of epidermolysis bullosa simplex caused by a novel EXPH5 mutation
    Koren, T.
    Zagairy, F.
    Krausz, J.
    Barak, E. Cohen
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2022, 142 (08) : S79 - S79
  • [6] Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations
    Turcan, Iana
    Pasmooij, Anna M. G.
    Van den Akker, Peter C.
    Lemmink, Henny
    Sinke, Richard J.
    Jonkman, Marcel F.
    JAMA DERMATOLOGY, 2016, 152 (10) : 1137 - 1141
  • [7] Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex
    Rashidghamat, E.
    Liu, L.
    McGrath, J.
    Martinez, A.
    Mellerio, J.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 : 155 - 156
  • [8] Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review
    Diociaiuti, A.
    Pisaneschi, E.
    Rossi, S.
    Condorelli, A. G.
    Carnevale, C.
    Zambruno, G.
    El Hachem, M.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2020, 34 (11) : E694 - E697
  • [9] Clinico-pathological and molecular characterization of autosomal recessive epidermolysis bullosa simplex due to EXPH5 (exophilin-5) mutations
    Rashidghamat, E.
    Mellerio, J.
    Martinez, A.
    McGrath, J.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2016, 136 (09) : S164 - S164
  • [10] Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin
    Charlesworth, A
    Gagnoux-Palacios, L
    Bonduelle, M
    Ortonne, JP
    De Raeve, L
    Meneguzzi, G
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (06) : 1344 - 1348